retinitis pigmentosa 90

Retinitis Pigmentosa (RP): A Group of Inherited Eye Diseases

Retinitis pigmentosa (RP) is a group of inherited eye diseases that cause progressive vision loss. It affects the retina, the light-sensitive layer of tissue in the back of the eye.

• Causes: RP is caused by genetic variants that affect the production or function of proteins essential for retinal health.
• Symptoms:
  • Night blindness: Difficulty seeing at night due to impaired rod photoreceptors.
  • Peripheral vision loss: Decreasing side and upper or lower visual field, leading to "tunnel vision".
  • Progression: Vision loss gradually worsens over time.
• Types: RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern. It may also occur as part of a syndrome, such as Bassen-Kornzweig or Laurence-Moon syndromes.

Prevalence and Impact

RP is estimated to affect 1 in 4,000 people worldwide, with variable prevalence in different populations. While complete blindness is uncommon, RP can significantly impact daily life, making it essential for individuals to be aware of the condition and its symptoms.

References:

• [11] Retinitis pigmentosa (RP) is a group of rare eye diseases that affect the retina (the light-sensitive layer of tissue in the back of the eye). RP makes cells in the retina break down slowly over time, causing vision loss. RP is a genetic disease that people are born with.
• [14] Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon.
• [13] The condition is estimated to affect 1 in 4,000 people worldwide, with variable prevalence in different populations.

Common Signs and Symptoms of Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a group of rare eye diseases that affect the retina, leading to progressive vision loss. The signs and symptoms of RP can vary from person to person, but here are some common ones:

• Night blindness: Difficulty seeing in dimly lit environments or at dusk, which may eventually lead to complete loss of night vision [5][6][7].
• Tunnel vision: A narrowing of the visual field, where only central vision is preserved [1].
• Sensitivity to light: Photophobia, or discomfort in bright light, can be a symptom of RP [1].
• Color blindness: Loss of color vision, which may occur as the disease progresses [1].
• Low vision: Gradual loss of visual acuity, leading to significant impairment of daily activities [2][3][4].

Age of Onset and Progression

The age at which symptoms start and how quickly they progress can vary significantly among individuals. Symptoms usually begin in childhood or adolescence, but some people may experience them later in life [3][11]. In most cases, people with RP lose much of their sight by adulthood [10].

Key Points to Remember

• Retinitis pigmentosa is a group of rare eye diseases that affect the retina.
• Common signs and symptoms include night blindness, tunnel vision, sensitivity to light, color blindness, and low vision.
• The age at which symptoms start and how quickly they progress can vary among individuals.
• Most people with RP lose much of their sight by adulthood.

References:

[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9 (not available) [10] Context result 10 [11] Context result 11

Diagnostic Tests for Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a group of inherited eye diseases that affect the retina, and diagnosing it requires a combination of clinical evaluation and specialized tests. Here are some of the diagnostic tests used to diagnose RP:

• Electroretinography (ERG): This test measures the electrical activity of the retina in response to light stimulation. It is considered the most critical diagnostic test for RP because it provides an objective measure of rod and cone function across the retina [7][14].
• Optical Coherence Tomography (OCT): This imaging test takes highly detailed pictures of the retina, which can help diagnose RP and find out how it is affecting the retina. OCT scans can show loss of photoreceptors, pigment deposits in the fundus, and attenuated retinal vessels [9][10].
• Visual Field Testing: This test helps measure your side vision and find any blind spots that may be developing. It is useful in monitoring the progression of disease and documenting the status of legal blindness [4][11].
• Fundus Autofluorescence (FAF) Imaging: This test uses blue light to take a picture of the retina, which can show changes in the retinal pigment epithelium.
• Electrooculogram (EOG): This measurement of standing potential between the eyes and the head can help confirm the diagnosis by demonstrating attenuated rod and cone signals [14].
• Ophthalmoscopy: An eye doctor may perform an ophthalmoscopic examination to look for specific changes in the retina that suggest RP.
• Electro-diagnostic tests: These include electroretinogram (ERG), electro-oculogram (EOG), and multifocal ERG.

These diagnostic tests can help establish a diagnosis of retinitis pigmentosa, which is typically based on peripheral visual field loss, pigment deposits in the fundus, loss of photoreceptors at the OCT scan, and other specific changes in the retina.

The differential diagnosis of retinitis pigmentosa (RP) involves considering various conditions that can present with similar symptoms, making it essential to rule out other potential causes before confirming a diagnosis of RP.

According to the American Academy of Ophthalmology, the differential diagnosis for RP includes:

• Infectious diseases such as syphilis or congenital rubella
• Drug-induced retinopathies like chloroquine or hydroxychloroquine toxicity
• Other inherited retinal dystrophies, including Leber's congenital amaurosis (LCA)
• Myotonic dystrophy-associated retinopathy
• Concentric retinitis pigmentosa, a rare form of RP with limited peripheral degeneration

Additionally, the International Society for Clinical Electrophysiology of Vision (ISCEV) guidelines provide criteria for establishing the diagnosis of RP based on electrophysiological tests such as electroretinography (ERG).

It's worth noting that individuals presenting with initial symptoms like photopsia, abnormal central vision, or marked asymmetry in ocular involvement may not have RP but another retinal degeneration or disease.

Sources:

• Boyd K, Vemulakonda GA, Turbert D. Retinitis Pigmentosa. American Academy of Ophthalmology.
• Nakahara M. Concentric retinitis pigmentosa: a rare and atypical form of the disease. [5]
• ISCEV guidelines for electrophysiological testing in RP.

Citations:

[9][10][11][12][13]